Variant

Genome Chromosome Position VCF ID Ref Alt mRNA Change mRNA Info
GRCh37 chr12 109996925 . G A CCDS9131.1:NM_052845.3:c.620gCg>gTg_NP_443077.1:p.207A>V Homo sapiens methylmalonic aciduria (cobalamin deficiency) cblB type (MMAB), transcript variant 1, mRNA.
pdb_id: 
label_asym_id: 
label_seq_id: 
label_comp_id: 
auth_asym_id: 
auth_seq_id: 
alphafold_id: 
label_asym_id: 
label_seq_id: 
label_comp_id: 
auth_asym_id: 
auth_seq_id: 

PDB

Entity Residue Monomer BioUnit Ligand View
PDB Entity Uniprot Identity Evalue ExpMethod Date Name Label Auth ASA rASA SS φ ψ ASA rASA ΔASA Interaction Name Distance Atom(p) Atom(l)
2idx 1 Q96EY8 99.49 4e-145 X-RAY
 2007-02-06 ALA A:153 A:207 48.0 0.417 H -44.0 -43.3 45.0 0.391 0.026 C:Q96EY8:0.026
 HOH
 9.511
 O
 O
ALA B:153 B:207 52.0 0.452 H -50.7 -31.1 52.0 0.452 0.0 HOH
 7.223
 O
 O
ALA C:153 C:207 58.0 0.504 H -61.8 -21.3 41.0 0.357 0.147 B:Q96EY8:0.148
 HOH
 2.804
 N
 O
6d5k 1 Q96EY8 99.49 4e-145 X-RAY
 2018-10-10 ALA A:153 A:207 58.0 0.504 H -60.1 -28.2 58.0 0.504 0.0
ALA B:153 B:207 52.0 0.452 H -69.7 -20.7 52.0 0.452 0.0 SO4
 7.378
 O
 O1
ALA C:153 C:207 56.0 0.487 H -60.0 -29.4 34.0 0.296 0.191 B:Q96EY8:0.191
 SO4
 7.385
 C
 O2
6d5x 1 Q96EY8 99.49 4e-145 X-RAY
 2018-10-10 ALA A:153 A:207 51.0 0.443 H -63.2 -24.5 44.0 0.383 0.06 C:Q96EY8:0.061
ALA B:153 B:207 49.0 0.426 H -64.8 -25.0 49.0 0.426 0.0 HOH
 6.064
 N
 O
ALA C:153 C:207 53.0 0.461 H -64.5 -24.8 35.0 0.304 0.157 B:Q96EY8:0.157
 SO4
HOH
 7.083
4.229
 C
N
 O2
O
7ruv 1 Q96EY8 98.98 2e-144 X-RAY
 2021-11-24 ALA A:153 A:207 54.0 0.47 H -62.7 -18.0 54.0 0.47 0.0 HOH
 7.129
 O
 O
ALA B:153 B:207 42.0 0.365 H -65.0 -17.0 NA NA NA
ALA C:153 C:207 56.0 0.487 H -61.1 -22.9 NA NA NA
ALA D:153 D:207 35.0 0.304 H -62.1 -21.9 NA NA NA
7rut 1 Q96EY8 98.98 2e-143 X-RAY
 2021-11-24 ALA A:153 E:207 48.0 0.417 H -61.0 -28.7 46.0 0.4 0.017 E:Q96EY8:0.017
 HOH
 2.899
 N
 O
ALA B:153 C:207 49.0 0.426 H -60.4 -27.4 NA NA NA
ALA C:153 F:207 44.0 0.383 H -55.8 -31.1 NA NA NA
ALA D:153 B:207 44.0 0.383 H -59.4 -25.2 NA NA NA
ALA E:153 A:207 43.0 0.374 H -56.9 -26.6 NA NA NA
ALA F:153 D:207 48.0 0.417 H -55.6 -32.4 45.0 0.391 0.026 A:Q96EY8:0.026
 HOH
 3.002
 O
 O
7ruu 1 Q96EY8 98.98 2e-143 X-RAY
 2021-11-24 ALA A:153 A:207 52.0 0.452 H -62.8 -24.5 52.0 0.452 0.0 HOH
 4.615
 N
 O
ALA B:153 B:207 55.0 0.478 H -58.7 -23.3 NA NA NA
ALA C:153 C:207 58.0 0.504 H -58.5 -25.3 NA NA NA
ALA D:153 D:207 56.0 0.487 H -65.5 -20.7 NA NA NA

AlphaFold DB

Entity Residue Monomer View
ID Entity Uniprot Identity Evalue Name Label Auth ASA rASA SS φ ψ
af-q96ey8-f1 1 Q96EY8 100.0 0.0 ALA A:207 A:207 43.0 0.374 H -58.5 -23.3